「genetic」の検索結果

Applies the behavioral genetics and twin-study methodologies of Dorret I. Boomsma (behavior geneticist, Vrije Universiteit Amsterdam). Use this skill when reasoning about heritability, genetic epidemiology, nature vs. nurture debates, psychiatric genetics, or longitudinal phenotyping. Trigger this whenever the user asks about the genetic basis of intelligence, lifestyle factors, educational attainment, or psychopathology, or when designing epidemiological studies. It helps deconfound environmental and genetic variables using extended family designs and discordant twin models.

日本語の概要は準備中です。原文の説明を表示しています。

Expert-level genetics covering Mendelian inheritance, molecular genetics, mutations, linkage analysis, population genetics, epigenetics, and GWAS. Covers classical and modern approaches from Mendel to CRISPR.

日本語の概要は準備中です。原文の説明を表示しています。

Gregor Mendel — genetics mentor, patient experimenter, and gardener-monk. Trigger this skill when users ask about genetics, heredity, inheritance patterns, Mendelian laws, dominant/recessive traits, gene segregation, independent assortment, Punnett squares, classical genetics, or evolution-genetics connections. Also trigger when discussing the philosophy of science, how great ideas get ignored, the relationship between faith and science, or the virtue of patient long-term observation. Even if the user doesn't say "Mendel" explicitly, trigger this skill for questions touching genetics, breeding, trait inheritance, or genomics history. Part of the AIPOCH Science Mentor Skill Hub.

日本語の概要は準備中です。原文の説明を表示しています。

Assesses genetic health of populations for conservation with Ne estimation across time horizons (LDNe NeEstimator V2 option-file API + SNeP physical-linkage correction; recent trajectory via GONE/GONE2; deep history via Stairway Plot 2 / dadi / fastsimcoal2 / PSMC), F-statistics, runs of homozygosity binned by length class to date inbreeding, genetic-load decomposition (Bertorelle 2022 realized vs masked), the modern 100/1000 Ne rule (Frankham 2014), Ne/Nc 2-6 orders of magnitude in marine fish (Hauser & Carvalho 2008), tree-sequence forward simulations (SLiM 4 + pyslim + tskit), and the Sukumaran-Knowles caveat against MSC methods for management-unit definition. Use when estimating Ne by time horizon, detecting inbreeding via F_ROH, decomposing genetic load, justifying conservation thresholds, distinguishing ESU/MU/DPS, configuring NeEstimator V2, or correcting LDNe physical linkage.

日本語の概要は準備中です。原文の説明を表示しています。

Think and work like an expert Animal Geneticist & Breeder. Use when a task calls for Animal Geneticist & Breeder judgment. Reasons from additive genetic variance, response to selection (R = i h sigma_A), accuracy, and inbreeding depression through REML/BLUP and ssGBLUP pipelines (BLUPF90, ASReml, WOMBAT), economic selection indices, optimum-contribution mate allocation, and Interbull MACE while treating confounded contemporary groups, prediction bias/dispersion, popular-sire inbreeding and rising deleterious haplotypes, GxE reranking, and pedigree or genotype-calling errors as first-class failure modes.

日本語の概要は準備中です。原文の説明を表示しています。

Assesses genetic health of populations for conservation using effective population size estimation (GONE2 for recent Ne trajectory, NeEstimator for contemporary Ne, Stairway Plot 2 and PSMC for historical Ne), F-statistics (hierfstat), runs of homozygosity (detectRUNS), and genetic diversity metrics. Use when estimating effective population size, detecting inbreeding or bottlenecks, or assessing genetic diversity in threatened species from microsatellite or SNP data.

日本語の概要は準備中です。原文の説明を表示しています。

Modern genetics expert covering Mendelian genetics, molecular genetics, genomics, and CRISPR technologies

日本語の概要は準備中です。原文の説明を表示しています。

Assesses genetic health of populations for conservation with Ne estimation across time horizons (LDNe NeEstimator V2 option-file API + SNeP physical-linkage correction; recent trajectory via GONE/GONE2; deep history via Stairway Plot 2 / dadi / fastsimcoal2 / PSMC), F-statistics, runs of homozygosity binned by length class to date inbreeding, genetic-load decomposition (Bertorelle 2022 realized vs masked), the modern 100/1000 Ne rule (Frankham 2014), Ne/Nc 2-6 orders of magnitude in marine fish (Hauser & Carvalho 2008), tree-sequence forward simulations (SLiM 4 + pyslim + tskit), and the Sukumaran-Knowles caveat against MSC methods for management-unit definition. Use when estimating Ne by time horizon, detecting inbreeding via F_ROH, decomposing genetic load, justifying conservation thresholds, distinguishing ESU/MU/DPS, configuring NeEstimator V2, or correcting LDNe physical linkage.

日本語の概要は準備中です。原文の説明を表示しています。

Expert-level evolutionary biology covering natural selection, genetic drift, molecular evolution, phylogenetics, speciation, macroevolution, and the modern synthesis.

日本語の概要は準備中です。原文の説明を表示しています。

Mendelian randomization (MR) causal inference — does an exposure, risk factor, or biomarker CAUSALLY affect a disease/outcome, using genetic variants as instrumental variables (IEU OpenGWAS / EpiGraphDB MR-EvE). Use this whenever the user asks if X causes Y, whether an observational association is actually causal or just correlation, if a biomarker/trait is a causal risk factor, wants to triangulate epidemiology against genetic evidence, or mentions Mendelian randomization, instrumental-variable analysis, two-sample MR, or genetic causal evidence — even if they never say "MR" (e.g. "is LDL cholesterol actually causal for heart disease?", "does BMI cause type 2 diabetes or just correlate?", "is CRP a causal driver of stroke?"). Covers trait-label resolution, MR effect direction/magnitude, instrument quality (MOE score), method agreement (IVW vs MR-Egger vs weighted median), bidirectional MR for reverse causation, and distinguishing causation from genetic correlation. Not for plain GWAS association lookups (use the GWAS skills) or fitting your own instruments from raw summary statistics.

日本語の概要は準備中です。原文の説明を表示しています。

Assesses genetic health of populations for conservation with Ne estimation across time horizons (LDNe NeEstimator V2 option-file API + SNeP physical-linkage correction; recent trajectory via GONE/GONE2; deep history via Stairway Plot 2 / dadi / fastsimcoal2 / PSMC), F-statistics, runs of homozygosity binned by length class to date inbreeding, genetic-load decomposition (Bertorelle 2022 realized vs masked), the modern 100/1000 Ne rule (Frankham 2014), Ne/Nc 2-6 orders of magnitude in marine fish (Hauser & Carvalho 2008), tree-sequence forward simulations (SLiM 4 + pyslim + tskit), and the Sukumaran-Knowles caveat against MSC methods for management-unit definition. Use when estimating Ne by time horizon, detecting inbreeding via F_ROH, decomposing genetic load, justifying conservation thresholds, distinguishing ESU/MU/DPS, configuring NeEstimator V2, or correcting LDNe physical linkage.

日本語の概要は準備中です。原文の説明を表示しています。

Assesses genetic health of populations for conservation with Ne estimation across time horizons (LDNe NeEstimator V2 option-file API + SNeP physical-linkage correction; recent trajectory via GONE/GONE2; deep history via Stairway Plot 2 / dadi / fastsimcoal2 / PSMC), F-statistics, runs of homozygosity binned by length class to date inbreeding, genetic-load decomposition (Bertorelle 2022 realized vs masked), the modern 100/1000 Ne rule (Frankham 2014), Ne/Nc 2-6 orders of magnitude in marine fish (Hauser & Carvalho 2008), tree-sequence forward simulations (SLiM 4 + pyslim + tskit), and the Sukumaran-Knowles caveat against MSC methods for management-unit definition. Use when estimating Ne by time horizon, detecting inbreeding via F_ROH, decomposing genetic load, justifying conservation thresholds, distinguishing ESU/MU/DPS, configuring NeEstimator V2, or correcting LDNe physical linkage.

日本語の概要は準備中です。原文の説明を表示しています。

Estimates bivariate genetic correlation (rg) between traits from GWAS summary statistics or individual-level genotypes using cross-trait LDSC, HDL, LAVA, rho-HESS, GREML-bivariate, Popcorn, and HDL-L. Use when quantifying shared genetic architecture between two traits, screening MR validity before causal inference, distinguishing global from locus-level rg, estimating trans-ancestry rg, separating partial from full causation via LCV gcp, or producing a STROBE-MR-compliant cross-trait sensitivity battery. Cross-trait LDSC intercept absorbs sample overlap and is NOT a bias; HDL is biased under sample overlap above ~5%. High rg between exposure and outcome motivates CHP-aware MR sensitivity (CAUSE, LHC-MR).

日本語の概要は準備中です。原文の説明を表示しています。

Identifies and classifies GDPR Art. 9 special category data including racial origin, political opinions, religious beliefs, trade union membership, genetic, biometric, health, and sexual orientation data. Covers processing conditions under Art. 9(2)(a)-(j). Keywords: special category, Art 9, sensitive data, biometric, genetic, health data, explicit consent.

日本語の概要は準備中です。原文の説明を表示しています。

Guides DPIA for health and medical data processing covering Art. 9(2)(h)-(j) exemptions, HIPAA crosswalk for transatlantic operations, clinical trial data protection under EU CTR 536/2014, and genetic data specifics under Art. 9(1). Activate for healthcare systems, clinical research, health apps, or medical device data. Keywords: health data, DPIA, Art. 9, clinical trial, genetic data, HIPAA, medical records, special category.

日本語の概要は準備中です。原文の説明を表示しています。

Think and work like an expert Medical Geneticist. Use when a task calls for Medical Geneticist judgment. Reasons from pedigree priors, HPO phenotype match, and ACMG/ClinGen variant classification; integrates exome/genome, CMA, RNA splicing, NBS ACT pathways, Tier 3 carrier screening, SF v3.3, and CPIC pharmacogenomics while treating VUS overcall, CPM/NIPT discordance, mtDNA heteroplasmy sampling, and SpliceAI-only splicing claims as first-class failure modes.

日本語の概要は準備中です。原文の説明を表示しています。

Think and work like an expert Molecular Geneticist. Use when a task calls for Molecular Geneticist judgment. Reasons from sequence-as-hypothesis, reference context (genome build, MANE/RefSeq transcript, HGVS), and allele-level molecular consequence through ACMG/AMP-ClinGen criteria, IGV/VEP/SpliceAI/gnomAD/ClinVar review, MIQE-compliant qPCR/ddPCR, and Sanger/NGS validation while treating allele dropout, pseudogene/paralog misalignment, FFPE deamination, contamination and barcode bleed, and transcript/build mismatch as first-class failure modes.

日本語の概要は準備中です。原文の説明を表示しています。

Think and work like an expert Immunogeneticist. Use when a task calls for Immunogeneticist judgment. Reasons from HLA/KIR/FcγR diversity, haplotype LD, and epitope immunogenicity; adjudicates NGS typing, imputation fine-mapping, eplet/TCE matching, and DSA/crossmatch artifacts.

日本語の概要は準備中です。原文の説明を表示しています。

Think and work like an expert Geneticist. Use when a task calls for Geneticist judgment. Reasons from particulate inheritance, segregation, recombination, allele frequency, and genotype-phenotype evidence through ACMG/AMP-ClinGen classification, gnomAD/ClinVar/OMIM, HPO phenotyping, and PLINK/GATK/VEP QC while treating sample swaps, cryptic relatedness, population stratification, LD tagging, phenocopies, winner's curse, and build/transcript mismatch as first-class failure modes.

日本語の概要は準備中です。原文の説明を表示しています。

Think and work like an expert Epigeneticist. Use when a task calls for Epigeneticist judgment. Reasons from chromatin state, DNA methylation, histone marks, accessibility, and 3D genome topology through ChIP/CUT&RUN, ATAC-seq, WGBS/EM-seq, Hi-C, and dCas9-DNMT3A/KRAB perturbation while treating cell-composition shifts, batch confounding, antibody nonspecificity, Tn5 bias, and incomplete bisulfite conversion as first-class failure modes.

日本語の概要は準備中です。原文の説明を表示しています。

Think and work like an expert Genetic Counselor. Use when a task calls for Genetic Counselor judgment. Reasons from probabilistic penetrance, Bayesian pretest probability, and patient autonomy through three-generation pedigrees, ACMG/AMP variant criteria, ClinVar/ClinGen/gnomAD, NCCN and CPIC guidelines, and cascade-testing protocols while treating VUS over-upgraded to pathogenic, screening-versus-diagnostic confusion (NIPT vs amnio/CVS), and unaddressed psychosocial and GINA discrimination risk as first-class failure modes.

日本語の概要は準備中です。原文の説明を表示しています。

Think and work like an expert Cytogeneticist. Use when a task calls for Cytogeneticist judgment. Reasons from chromosome architecture, copy-number state, banding resolution, and cell-line/clonal context through karyotype, FISH, chromosomal microarray, optical genome mapping, ISCN, and ACMG/ClinGen dosage standards while treating confined placental mosaicism, maternal cell contamination, pseudomosaicism, and culture/banding artifacts as first-class failure modes.

日本語の概要は準備中です。原文の説明を表示しています。

Use when a task needs the judgment of a Cytogenetic Technologist — choosing a culture/harvest protocol and band resolution for a specimen, applying ISCN clonality criteria to a metaphase count, deciding between karyotype, FISH, and chromosomal microarray for a clinical question, or writing and QCing an ISCN-formatted cytogenetics report.

日本語の概要は準備中です。原文の説明を表示しています。

Estimates bivariate genetic correlation (rg) between traits from GWAS summary statistics or individual-level genotypes using cross-trait LDSC, HDL, LAVA, rho-HESS, GREML-bivariate, Popcorn, and HDL-L. Use when quantifying shared genetic architecture between two traits, screening MR validity before causal inference, distinguishing global from locus-level rg, estimating trans-ancestry rg, separating partial from full causation via LCV gcp, or producing a STROBE-MR-compliant cross-trait sensitivity battery. Cross-trait LDSC intercept absorbs sample overlap and is NOT a bias; HDL is biased under sample overlap above ~5%. High rg between exposure and outcome motivates CHP-aware MR sensitivity (CAUSE, LHC-MR).

日本語の概要は準備中です。原文の説明を表示しています。